|Year : 2016 | Volume
| Issue : 3 | Page : 202-205
Erythrokeratodermia variabilis and erythrokeratoderma en cocardes: Case series with review of literature
Sahana M Srinivas1, Sandipan Dhar2
1 Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
2 Department of Pediatric Dermatology, Institute of Child Health, Kolkata, West Bengal, India
|Date of Web Publication||5-Jul-2016|
Sahana M Srinivas
Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka
Source of Support: None, Conflict of Interest: None
Erythrokeratodermia variabilis (EKV) are a rare heterogeneous group of inherited cornification disorders. They are characterized by two distinct morphological types of skin lesions: Fixed hyperkeratotic plaques and sharply marginated, pruritic, and migratory erythematous lesions. We report three cases of EKV along with a review of literature.
Keywords: En cocardes, erythrokeratodermia variabilis, hyperkeratotic plaque, migratory erythema
|How to cite this article:|
Srinivas SM, Dhar S. Erythrokeratodermia variabilis and erythrokeratoderma en cocardes: Case series with review of literature. Indian J Paediatr Dermatol 2016;17:202-5
|How to cite this URL:|
Srinivas SM, Dhar S. Erythrokeratodermia variabilis and erythrokeratoderma en cocardes: Case series with review of literature. Indian J Paediatr Dermatol [serial online] 2016 [cited 2021 May 10];17:202-5. Available from: https://www.ijpd.in/text.asp?2016/17/3/202/179489
| Introduction|| |
Erythrokeratodermas are rare group of disorders of keratinization. They are classified into progressive symmetric erythrokeratoderma (PSEK) and erythrokeratodermia variabilis (EKV) with few individuals showing overlapping features of both conditions. EKV is inherited as an autosomal dominant disorder, rarely autosomal recessive pattern is reported in literature. Clinically, they manifest as migratory erythema, annular, or hyperkeratotic plaque. Atypical variants of EKV include erythema gyratum repens such as skin lesions, reticulate erythrokeratoderma, and “en cocardes” type. Here, we describe three children with different morphological presentation of EKV. All children were treated with oral retinoids with good clinical improvement.
| Case Reports|| |
A 2-year-old male term child, born of consanguineous marriage presented with skin lesions on flexural areas from 8 days of birth. There was no history of collodion membrane at birth, and his developmental milestones were normal. Cutaneous examination showed well-defined erythematous, hyperkeratotic plaques distributed on neck, bilaterally symmetrically on axillae, cubital fossa, inguinal fossa, lower abdomen, and popliteal fossa [Figure 1]a and [Figure 1]b. Diffuse fine scaling was present on face, trunk, and extremities. Scalp, hair, oral mucosa, nails, palms, and soles were normal. Systemic examination was normal. Skin biopsy from the hyperkeratotic plaque showed hyperkeratosis, papillomatosis, and acanthosis [Figure 2]. Based on the above findings diagnosis of EKV Mendes da Costa hyperkeratotic type was considered.
|Figure 1: (a and b) Well-defined erythematous, hyperkeratotic plaques present bilaterally symmetrical on the axillae, inguinal fossa, and thighs|
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|Figure 2: Epidermis showing acanthosis, hyperkeratosis, and papillomatosis (H and E, ×10)|
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An 8-month-old male term child, born of consanguineous marriage presented with erythematous skin lesions on face, trunk, and extremities from 5 days of birth. His developmental milestones were normal. Few of the lesions disappeared spontaneously to reappear latter. Child was diagnosed as eczema and treated with topical steroids with no improvement. Cutaneous examination showed well-defined erythematous plaque with slight peeling and geographical border on periorificial, flexor and extensor aspect of upper limbs, chest, thighs, gluteal region, lower legs, and dorsum of feet [Figure 3]a,[Figure 3]b,[Figure 3]c,[Figure 3]d. Mild erythema with scaling was present on scalp. Palms and soles were normal. Skin biopsy showed epidermis with mild acanthosis, confluent parakeratosis interposed between orthokeratosis. Diagnosis of EKV Mendes da Costa migratory and fixed hyperkeratotic forms was made.
|Figure 3: (a and b) Well-defined erythematous plaque with erosions present on cheeks, periorificial region, trunk, and lower legs. (c and d) Well-defined erythematous scaly plaque with serpiginous border present on gluteal region, extensor aspect of lower legs, axillae, right shoulder, and elbow joints|
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A 9-month-old healthy, male, term child born out of consanguineous marriage presented with itchy skin lesions on trunk and extremities since three months of age. His milestones were normal. General physical examination was normal. Cutaneous examination revealed multiple well-defined concentric layers of annular plaques with central scaling surrounded by erythema giving the appearance of targetoid or “en cocardes” appearance distributed on the axillae, extending to upper arms, inguinal fossae, and thighs [Figure 4]a and [Figure 4]b. Few erythematous plaques with mild peeling with serpiginous border were noted on trunk, gluteal region, and flexor aspect of lower legs [Figure 4]c and [Figure 4]d. Palms and soles were normal. Skin biopsy showed epidermis with acanthosis, papillomatosis, orthokeratosis, and parakeratosis with preserved granular layer. Mild perivascular lymphocytic infiltrate was present in dermis [Figure 5]. Based on the above findings diagnosis of erythrokeratoderma en cocardes type was done.
|Figure 4: (a and b) Multiple well-defined concentric layers of erythema with scaling, resembling “en cocardes” on the axillae. (c and d) Ill-defined erythema with scaling along with geographical border present on chest, and gluteal region|
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|Figure 5: Epidermis showing acanthosis, papillomatosis, orthokeratosis, and parakeratosis (H and E, ×10)|
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There was no history of similar skin lesions in any of the family members in all the above cases. All the three children described were put on oral acitretin 0.5 mg/kg body weight, emollients, and regularly followed up. They showed a good improvement.
| Discussion|| |
In 1925, Mendes da Costa coined the term “Erythro-et Keratodermia variabilis in a mother and daughter” to describe this heritable disorder that is characterized by fixed hyperkeratotic plaques and erythematous lesions with “outlines such as the boundary lines of seacoasts.” EKV includes subtypes such as EKV Mendes da Costa and EKV Cram-Mevorah. EKV Mendes da Costa accounts to two-third of all types of EKV. It is due to germline mutations in the gap junction (GJ) protein beta 3 and beta 4 that code for GJ proteins connexion 31 (Cx31) and 30.3 (Cx30.3). Mutations in these genes alters the structure and function of GJ channels, impair cytoplasmic trafficking of the mutant GJ proteins to cell membrane and induce cell death thereby impairing the normal epidermal differentiation.
EKV manifests at birth or during infancy. EKV Mendes da Costa has two types of morphological skin lesions: Migratory erythematous type and fixed hyperkeratotic plaques. Initially, they present as erythema, and later they become hyperkeratotic. Migratory lesions can occur all over the body, persist for hours to days, and disappear spontaneously to reappear again. They have irregular borders with fine scaling. Variations in the lesions can be influenced by emotions, physical factors such as temperature, friction, pressure, or hormones. Fixed hyperkeratotic plaques are erythematous, well-demarcated and distributed on face, buttocks, and extremities. They may be associated with palmoplantar keratoderma. EKV Cram-Mevorah is a rare variant, which is characterized by circinate or erythema gyratum repens such as skin lesions. They also present as rapidly migrating figurate erythema in an annular, garland, or spiral pattern.
Erythrokeratoderma en cocardes or Degos' syndrome is a rare and atypical variant of EKV. It was described by Degos in 1947. It is characterized by intermittent annular lesions with central exfoliative scaling and surrounding erythema, giving the appearance of targetoid, or “en cocardes” distributed on the extremities. Apart from the characteristic lesions, fixed erythematous patches, and hyperkeratotic plaques may also be present. All forms of EKV persist to adulthood, but the erythematous lesions are recurrent or disappear after puberty.
Diagnosis of EKV is based on clinical features and genetic analysis. Histopathology findings are nonspecific and include acanthosis, hyperkeratosis, papillomatosis, and normal granular layer. Differential diagnosis includes PSEK, congenital ichthyosis, and Netherton syndrome. Atypical variants should be differentiated from subacute lupus erythematosus, erythema annulare centrifugum, and erythema multiforme. Lesions of PSEK are nonmigratory well-demarcated, polycyclic, hyperkeratotic and distributed symmetrically over the elbows, knees, dorsal aspect of hands, feet and buttocks, and typically sparing the trunk.
There is no specific therapy or guidelines for treatment of EKV. Various topical therapies used are emollients, retinoic acid, keratolytics, tazarotene, alpha hydroxyl acid, and topical corticosteroids. Oral retinoids acitretin, etretinate, and isotretinoin have found to very effective., Lesions reappear once the treatment is stopped. Parents should be counseled about the prognosis and regular follow-up. In our case series, we had all three different types of EKV, and they all showed a good response to acitretin.
Declaration of Patient Consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
The authors would like to thank Dr. Madhavi Naik, Consultant Pathologist, St Theresa's Hospital, Bengaluru for histopathological contribution.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]